Genomic structural variants (SVs) involve the rearrangement of DNA sequences and have the potential to drive phenotypic changes across the tree of life. The discovery of structural variation dates ...

Genome assemblies from 65 individuals, representing a variety of the world’s populations, are advancing the scientific exploration of complex genetic structural variation. Structural variations are ...

Since the first sequencing of a human genome more than 20 years ago, the study of human genomes has relied almost exclusively on a single reference genome to which others are compared to identify ...

Researchers have significantly expanded the catalogue of known human genetic variation. The resulting datasets, shared in two back-to-back publications in the journal Nature, constitute what may be ...

Chong’s study, “Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak,” was recently published in Nature Communications. UAB researchers have developed a ...

Giraffe, a new mapping algorithm developed by scientists at the University of California (UC), Santa Cruz, Genomics Institute can efficiently map individual sequencing reads to a pangenome reference ...